Molecular and clinical analyses of Greig cephalopolysyndactyly and pallister-hall syndromes: Robust phenotype prediction from the type and position of GLI3 mutations

American Journal of Human Genetics

Volumn 76, Issue 4, 2005, Pages 609-622

  Johnston, Jennifer J ^a   Olivos Glander, Isabelle ^a   Killoran, Christina ^a   Elson, Emma ^b   Turner, Joyce T ^a   Peters, Kathryn F ^c   Abbott, Margaret H ^d   Aughton, David J ^e   Aylsworth, Arthur S ^f   Bamshad, Michael J ^g   Booth, Carol ^h   Curry, Cynthia J ⁱ   David, Albert ^j   Dinulos, Mary Beth ^k   Flannery, David B ^m   Fox, Michelle A ^o   Graham Jr , John M ^n,o   Grange, Dorothy K ^p   Guttmacher, Alan E ^a   Hannibal, Mark C ^q   Henn, Wolfram ^t   Hennekam, Raoul C M ^u   Holmes, Lewis B ^v   Hoyme, H Eugene ^w   Leppig, Kathleen A ^s   Lin, Angela E ^x   MacLeod, Patrick ^y   Manchester, David K ^z   Marcelis, Carlo ^aa   Mazzanti, Laura ^ab   McCann, Emma ^ac   McDonald, Marie T ^ad   Mendelsohn, Nancy J ^ae   Moeschler, John B ^l   Moghaddam, Billur ^af   Neri, Giovanni ^ag   Newbury Ecob, Ruth ^ah   Pagon, Roberta A ^r   Phillips III, John A ^ai   Sadler, Laurie S ^aj   Stoler, Joan M ^v   Tilstra, David ^ak   Vockley, Catherine M Walsh ^al   Zackai, Elaine H ^am   Zadeh, Touran M ^an   Brueton, Louise ^ao,ap   Black, Graeme Charles M ^b   Biesecker, Leslie G ^a   more..

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b ST MARY S HOSPITAL   (United Kingdom)

^c PENNSYLVANIA STATE UNIVERSITY   (United States)

^d Department of Psychiatry   (United States)

^e WILLIAM BEAUMONT HOSPITAL   (United States)

^f UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^h ADVOCATE LUTHERAN GENERAL HOSPITAL   (United States)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

^j NANTES UNIVERSITY HOSPITAL   (France)

^k Children's Hospital at Dartmouth   (United States)

^l DARTMOUTH HITCHCOCK MEDICAL CENTER   (United States)

^m MEDICAL COLLEGE OF GEORGIA   (United States)

ⁿ CEDARS SINAI MEDICAL CENTER   (United States)

^o UNIVERSITY OF CALIFORNIA   (United States)

^p ST LOUIS CHILDREN S HOSPITAL   (United States)

^q Div of Genet and Devmtl Medicine

^r Landstuhl Regional Medical Center   (United States)

^s CENTER FOR HEALTH STUDIES   (United States)

^t SAARLAND UNIVERSITY   (Germany)

^u ACADEMIC MEDICAL CENTER   (Netherlands)

^v MASSACHUSETTS GENERAL HOSPITAL   (United States)

^w STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^x National Birth Defects Centre   (United States)

^y VICTORIA GENERAL HOSPITAL   (Canada)

^z Children's Hospital   (United States)

^aa RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^ab UNIVERSITY OF BOLOGNA   (Italy)

^ac ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^ad DUKE UNIVERSITY MEDICAL CENTER   (United States)

^ae Children's Hospital and Clinic   (United States)

^af H A Chapman Institute   (United States)

^ag CATHOLIC UNIVERSITY   (Italy)

^ah ST MICHAEL'S HOSPITAL   (United Kingdom)

^ai VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^aj CHILDREN S HOSPITAL OF BUFFALO   (United States)

^ak CentraCare Clinic   (United States)

^al MAYO CLINIC   (United States)

^am Children's Hospital Philadelphia   (United States)

^an Genetics Center   (United States)

^ao Kennedy Galton Centre   (United Kingdom)

^ap BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

REPRESSOR PROTEIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; ZINC FINGER PROTEIN GLI3;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE TRANSLOCATION; GENOTYPE PHENOTYPE CORRELATION; GREIG CEPHALOPOLYSYNDACTYLY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PALLISTER HALL SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SCREENING;

EID: 20144387269     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/429346     Document Type: Article

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